| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000926 | Platyspondyly | |
Show
|
| HP:0000939 | Osteoporosis | "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] |
Show
|
| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001386 | Joint swelling | |
Show
|
| HP:0001387 | Joint stiffness | "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators] |
Show
|
| HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
Show
|
| HP:0002355 | Difficulty walking | |
Show
|
| HP:0002515 | Waddling gait | |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0002751 | Kyphoscoliosis | |
Show
|
| HP:0002758 | Osteoarthritis | |
Show
|
| HP:0002808 | Kyphosis | |
Show
|
| HP:0002812 | Coxa vara | |
Show
|
| HP:0002815 | Abnormality of the knees | "An abnormality of the knee joint or surrounding structures." [HPO:curators] |
Show
|
| HP:0002912 | Methylmalonic acidemia | |
Show
|
| HP:0002970 | Genu varum | |
Show
|
| HP:0003016 | Metaphyseal widening | "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] |
Show
|
| HP:0003040 | Arthropathy | |
Show
|
| HP:0003071 | Flattened epiphyses | |
Show
|
| HP:0003371 | Enlarged capital femoral epiphyses | |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0004576 | Sclerotic vertebral endplates | "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] |
Show
|
| HP:0004637 | decreased cervical spine mobility | |
Show
|
| HP:0006163 | Enlarged metacarpophalangeal joints | |
Show
|
| HP:0006247 | Enlarged interphalangeal joints | |
Show
|
| HP:0010580 | Enlarged epiphyses | |
Show
|
| HP:0100490 | Camptodactyly (hands) | "Contractures of one ore more joints of the fingers." [HPO:sdoelken] |
Show
|
